Technology dictates algorithms: recent developments in read alignment

M Alser, J Rotman, D Deshpande, K Taraszka, H Shi… - Genome biology, 2021 - Springer
Aligning sequencing reads onto a reference is an essential step of the majority of genomic
analysis pipelines. Computational algorithms for read alignment have evolved in …

RNA sequencing data: hitchhiker's guide to expression analysis

K Van den Berge, KM Hembach… - Annual Review of …, 2019 - annualreviews.org
Gene expression is the fundamental level at which the results of various genetic and
regulatory programs are observable. The measurement of transcriptome-wide gene …

Mutation bias reflects natural selection in Arabidopsis thaliana

JG Monroe, T Srikant, P Carbonell-Bejerano, C Becker… - Nature, 2022 - nature.com
Since the first half of the twentieth century, evolutionary theory has been dominated by the
idea that mutations occur randomly with respect to their consequences. Here we test this …

A reference genome for pea provides insight into legume genome evolution

J Kreplak, MA Madoui, P Cápal, P Novák, K Labadie… - Nature …, 2019 - nature.com
We report the first annotated chromosome-level reference genome assembly for pea, Gregor
Mendel's original genetic model. Phylogenetics and paleogenomics show genomic …

RaGOO: fast and accurate reference-guided scaffolding of draft genomes

M Alonge, S Soyk, S Ramakrishnan, X Wang… - Genome biology, 2019 - Springer
We present RaGOO, a reference-guided contig ordering and orienting tool that leverages
the speed and sensitivity of Minimap2 to accurately achieve chromosome-scale assemblies …

Rapid and accurate alignment of nucleotide conversion sequencing reads with HISAT-3N

Y Zhang, C Park, C Bennett, M Thornton… - Genome …, 2021 - genome.cshlp.org
Sequencing technologies using nucleotide conversion techniques such as cytosine to
thymine in bisulfite-seq and thymine to cytosine in SLAM seq are powerful tools to explore …

Tumor cell-intrinsic factors underlie heterogeneity of immune cell infiltration and response to immunotherapy

J Li, KT Byrne, F Yan, T Yamazoe, Z Chen, T Baslan… - Immunity, 2018 - cell.com
The biological and functional heterogeneity between tumors—both across and within cancer
types—poses a challenge for immunotherapy. To understand the factors underlying tumor …

Accurate detection of complex structural variations using single-molecule sequencing

FJ Sedlazeck, P Rescheneder, M Smolka, H Fang… - Nature …, 2018 - nature.com
Structural variations are the greatest source of genetic variation, but they remain poorly
understood because of technological limitations. Single-molecule long-read sequencing has …

Massive haplotypes underlie ecotypic differentiation in sunflowers

M Todesco, GL Owens, N Bercovich, JS Légaré… - Nature, 2020 - nature.com
Species often include multiple ecotypes that are adapted to different environments.
However, it is unclear how ecotypes arise and how their distinctive combinations of adaptive …

Thiol-linked alkylation of RNA to assess expression dynamics

VA Herzog, B Reichholf, T Neumann, P Rescheneder… - Nature …, 2017 - nature.com
Gene expression profiling by high-throughput sequencing reveals qualitative and
quantitative changes in RNA species at steady state but obscures the intracellular dynamics …